Litcius/Paper detail

Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, Anne de Saint Martin, Marie Therese Abiwarde, Amy McTague, Roser Pons, Amélie Piton, Manju A. Kurian, Gautam Ambegaonkar, Helen V. Firth, Alba Sanchis‐Juan, Marie Deprez, Katrien Jansen, Liesbeth De Waele, Eva H. Briltra, Nienke E. Verbeek, Marjan van Kempen, Walid Fazeli, Pasquale Striano, Federico Zara, Gerhard H. Visser, Hilde M. H. Braakman, Martin Haeusler, Miriam Elbracht, Ulvi Vaher, Thomas Smol, Johannes R. Lemke, Konrad Platzer, Joanna Kennedy, Karl Martin Klein, Ping Yee Billie Au, Kimberly Smyth, Julie Kaplan, Morgan Thomas, Malin Dewenter, Argirios Dinopoulos, Arthur J. Campbell, Dennis Lal, Damien Lederer, Vivian W. Y. Liao, Philip K. Ahring, Rikke S. Møller, Elena Gardella

2021Genetics in Medicine23 citationsDOIOpen Access PDF

Topics & Concepts

PhenotypeGenotypeGeneticsGenotype-phenotype distinctionBiologyGeneGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders